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PW121943

Pw121943 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type II

Rattus norvegicus
Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:51

Last Updated: September 10, 2018 at 15:51

PW000192

Pw000192 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type II

Homo sapiens
Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: WishartLab

Created On: August 19, 2013 at 12:05

Last Updated: August 19, 2013 at 12:05

PW121718

Pw121718 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type II

Mus musculus
Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:49

Last Updated: September 10, 2018 at 15:49

PW121719

Pw121719 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type III

Mus musculus
Congenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct microsomal oxysterol 7-alpha-hydroxylase (CYP7B1). CBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:49

Last Updated: September 10, 2018 at 15:49

PW000193

Pw000193 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type III

Homo sapiens
Congenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct microsomal oxysterol 7-alpha-hydroxylase (CYP7B1). CBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: WishartLab

Created On: August 19, 2013 at 12:05

Last Updated: August 19, 2013 at 12:05

PW127256

Pw127256 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type III

Homo sapiens
Congenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct microsomal oxysterol 7-alpha-hydroxylase (CYP7B1). CBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: November 23, 2022 at 14:50

Last Updated: November 23, 2022 at 14:50

PW121944

Pw121944 View Pathway
disease

Congenital Bile Acid Synthesis Defect Type III

Rattus norvegicus
Congenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct microsomal oxysterol 7-alpha-hydroxylase (CYP7B1). CBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:51

Last Updated: September 10, 2018 at 15:51

PW122123

Pw122123 View Pathway
disease

Congenital Disorder of Glycosylation CDG-IId

Rattus norvegicus
The congenital disorder of glycosylation type IID, also called CDG IId or CDG2D is a recessive genetic disorder caused by an autosomal mutation in the B4GALT1 gene which encodes the protein beta-1,4-galactosyltrasnferase 1. This protein is responsible for the conversion of D-glucose and uridine diphosphategalactose to alpha-lactose and uridine 5’-diphosphate. This reaction occurs in the mammary glands during lactation, and may be present during oligosaccharide synthesis in glycoproteins. This is a type II disorder, which means that the glycosylation steps affected are trimming, elongation and processing of glycans, whereas in type I disorders, the steps that are disrupted are assembly of oligosaccharides and their transfer. CDG disorders are characterized by mental and motor retardation, as well as increased levels of transferrins in the serum.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:52

Last Updated: September 10, 2018 at 15:52

PW000555

Pw000555 View Pathway
disease

Congenital Disorder of Glycosylation CDG-IId

Homo sapiens
The congenital disorder of glycosylation type IID, also called CDG IId or CDG2D is a recessive genetic disorder caused by an autosomal mutation in the B4GALT1 gene which encodes the protein beta-1,4-galactosyltrasnferase 1. This protein is responsible for the conversion of D-glucose and uridine diphosphategalactose to alpha-lactose and uridine 5’-diphosphate. This reaction occurs in the mammary glands during lactation, and may be present during oligosaccharide synthesis in glycoproteins. This is a type II disorder, which means that the glycosylation steps affected are trimming, elongation and processing of glycans, whereas in type I disorders, the steps that are disrupted are assembly of oligosaccharides and their transfer. CDG disorders are characterized by mental and motor retardation, as well as increased levels of transferrins in the serum.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: WishartLab

Created On: August 29, 2013 at 10:39

Last Updated: August 29, 2013 at 10:39

PW121899

Pw121899 View Pathway
disease

Congenital Disorder of Glycosylation CDG-IId

Mus musculus
The congenital disorder of glycosylation type IID, also called CDG IId or CDG2D is a recessive genetic disorder caused by an autosomal mutation in the B4GALT1 gene which encodes the protein beta-1,4-galactosyltrasnferase 1. This protein is responsible for the conversion of D-glucose and uridine diphosphategalactose to alpha-lactose and uridine 5’-diphosphate. This reaction occurs in the mammary glands during lactation, and may be present during oligosaccharide synthesis in glycoproteins. This is a type II disorder, which means that the glycosylation steps affected are trimming, elongation and processing of glycans, whereas in type I disorders, the steps that are disrupted are assembly of oligosaccharides and their transfer. CDG disorders are characterized by mental and motor retardation, as well as increased levels of transferrins in the serum.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:50

Last Updated: September 10, 2018 at 15:50